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Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Barrie, Elizabeth S; Overwater, Eline; van Haelst, Mieke M; Motazacker, M Mahdi; Truxal, Kristen V; Crist, Erin; Mostafavi, Roya; Pivnick, Eniko K; Choudhri, Asim F; Narumanchi, TaraChandra; Castelluccio, Valerie; Walsh, Laurence E; Garganta, Cheryl; Gastier-Foster, Julie M.
Afiliación
  • Barrie ES; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio.
  • Overwater E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Motazacker MM; Laboratory of Genome Diagnostics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
  • Truxal KV; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio.
  • Crist E; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio.
  • Mostafavi R; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio.
  • Pivnick EK; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
  • Choudhri AF; Department of Pediatrics and Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee.
  • Narumanchi T; Department of Radiology, Ophthalmology, and Neurosurgery, University of Tennessee Health Science Center, Memphis, Tennessee.
  • Castelluccio V; Department of Pediatrics, West Virginia University, Morgantown, West Virginia.
  • Walsh LE; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Garganta C; Department of Neurology, Medical and Molecular Genetics, and Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Gastier-Foster JM; Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, Florida.
Am J Med Genet A ; 182(5): 1201-1208, 2020 05.
Article en En | MEDLINE | ID: mdl-32100459
Homozygosity for nonsense variants in CEP55 has been associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. Missense variants in CEP55 have not previously been reported in association with disease. Here we describe seven living individuals from five families with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all have a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings are homozygous for a consensus splice site variant near the end of the gene. These affected girls all have severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. Here we compare our seven patients with three previously reported families with a prenatal lethal phenotype (MARCH syndrome/Meckel-like syndrome) due to homozygous CEP55 nonsense variants. Our series suggests that individuals with compound heterozygosity for nonsense and missense variants in CEP55 have a different viable phenotype. We show that homozygosity for a splice variant near the end of the CEP55 gene is also compatible with life.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Quiste Pancreático / Anomalías Múltiples / Cerebelo / Proteínas de Ciclo Celular / Predisposición Genética a la Enfermedad / Síndrome de Dandy-Walker / Malformaciones del Sistema Nervioso Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Quiste Pancreático / Anomalías Múltiples / Cerebelo / Proteínas de Ciclo Celular / Predisposición Genética a la Enfermedad / Síndrome de Dandy-Walker / Malformaciones del Sistema Nervioso Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos